Trichothiodystrophy - Key Clinical Features
Skin manifestations and annexes
Brittle hair and nails (diagnostic hallmark of TTD)
Ichthyosis
Collodion baby
Erythroderma, eczema
Photosensitivity in about half the patients
Dysmorphisms and skeletal anomalies
Microcephaly
Wizened face with receding chin, protruding ears, thin and beaked nose
Skeletal deformations including genu valgum, coxa valga, pes valgus, cubital and tibial valgus deformity, ulnar deviation of fingers, zygodactyly, clinodactyly, scoliosis, thoracic kyphosis, lumbosacral lordosis, and metacarpal bones of the thumb reduced in size
Neurological dysfunctions
Mental retardation
Spasticity/paralysis, ataxia, intention tremor
Impaired motor control
Neurodysmyelination
Ocular abnormalities
Cataracts
Conjunctivitis
Others
Recurrent infections
Growth retardation
Impaired sexual development
Dental abnormalities, caries